Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 10019
MIM: 605093
HGNC: 29605
Ensembl: ENSG00000111252
Variants:
dbSNP: 10019
ClinVar: 10019
TCGA: ENSG00000111252
COSMIC: SH2B3
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000111252 | ENST00000341259 | Q9UQQ2 |
| ENSG00000111252 | ENST00000538307 | F5GYM4 |
| ENSG00000111252 | ENST00000550925 | R4GN84 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA444552 | Hypertension | Disease | ClinicalAnnotation | associated | PD | 31327267 | |
| PA448765 | candesartan | Chemical | ClinicalAnnotation | associated | PD | 31327267 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38377486 | 2024 | LNK/SH2B3 loss of function increases susceptibility to murine and human atrial fibrillation. | 2 |
| 38417019 | 2024 | Rare SH2B3 coding variants in lupus patients impair B cell tolerance and predispose to autoimmunity. | 1 |
| 38723947 | 2024 | Negative regulation of SH2B3 by SMYD5 controls epithelial-mesenchymal transition in lung cancer. | 0 |
| 38377486 | 2024 | LNK/SH2B3 loss of function increases susceptibility to murine and human atrial fibrillation. | 2 |
| 38417019 | 2024 | Rare SH2B3 coding variants in lupus patients impair B cell tolerance and predispose to autoimmunity. | 1 |
| 38723947 | 2024 | Negative regulation of SH2B3 by SMYD5 controls epithelial-mesenchymal transition in lung cancer. | 0 |
| 36622793 | 2023 | CTLA4, SH2B3, and CLEC16A diversely affect the progression of early islet autoimmunity in relatives of Type 1 diabetes patients. | 0 |
| 36899493 | 2023 | Acquired uniparental isodisomies involving chromosome 12 in paediatric B-cell precursor acute lymphoblastic leukaemia: Associations with chromosome 21 gains and SH2B3 mutations. | 0 |
| 36622793 | 2023 | CTLA4, SH2B3, and CLEC16A diversely affect the progression of early islet autoimmunity in relatives of Type 1 diabetes patients. | 0 |
| 36899493 | 2023 | Acquired uniparental isodisomies involving chromosome 12 in paediatric B-cell precursor acute lymphoblastic leukaemia: Associations with chromosome 21 gains and SH2B3 mutations. | 0 |
| 33495419 | 2021 | LNK promotes granulosa cell apoptosis in PCOS via negatively regulating insulin-stimulated AKT-FOXO3 pathway. | 19 |
| 34740959 | 2021 | The Autoimmune Risk R262W Variant of the Adaptor SH2B3 Improves Survival in Sepsis. | 3 |
| 33495419 | 2021 | LNK promotes granulosa cell apoptosis in PCOS via negatively regulating insulin-stimulated AKT-FOXO3 pathway. | 19 |
| 34740959 | 2021 | The Autoimmune Risk R262W Variant of the Adaptor SH2B3 Improves Survival in Sepsis. | 3 |
| 31428775 | 2020 | The Longevity-Associated SH2B3 (LNK) Genetic Variant: Selected Aging Phenotypes in 379,758 Subjects. | 11 |
Citation
Dessen P
SH2B3 (SH2B adaptor protein 3)
Atlas Genet Cytogenet Oncol Haematol. 2010-10-01
Online version: http://atlasgeneticsoncology.org/gene/51692/sh2b3-(sh2b-adaptor-protein-3)
